List of works - Kim M Keppler-Noreuil

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

scientific article

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

scientific article

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features ⬇️

scientific article published on August 3, 2011

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

scientific journal article

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A ⬇️

scientific article published on March 13, 2013

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials

scientific article

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

scientific article published on January 2002

Behavioral management of a long-term survivor with tetrasomy 18p.

scientific article published in February 2006

Binder phenotype: associated findings and etiologic mechanisms

scientific article published on September 2010

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

scientific article

Characterization of thrombosis in patients with Proteus syndrome

scientific article published on 19 June 2017

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study

scientific article published on 28 September 2017

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

scientific article

Clinical features and management issues in Mowat-Wilson syndrome

scientific article published in December 2006

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

scientific article

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

scientific article

Craniosynostosis: another feature of the 22q11.2 deletion syndrome

scientific article published in August 2005

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

scientific article published on 23 May 2013

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies

scientific article published on 19 November 2015

Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter Syndrome ⬇️

scientific article published on May 28, 2013

Further delineation of Kabuki syndrome in 48 well-defined new individuals

scientific article published in January 2005

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

scientific article published on February 2016

Guidelines for case classification for the National Birth Defects Prevention Study

scientific article

In vitro fertilization is associated with an increase in major birth defects

scientific article

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

scientific journal article

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway

scientific article published on January 2017

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

scientific article published on 20 February 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

scientific article published in November 2018

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

scientific article

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

scientific article

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

scientific article published on 22 January 2012

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

scientific article

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

scientific article published on 18 May 2016

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series

scientific article published on 11 January 2018

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

scientific article

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

scientific article published on 14 October 2017

Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review

scientific article published in September 2007

Risk factors for Dandy-Walker malformation: a population-based assessment

scientific article published in May 2015

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

scientific article

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis

scientific article published on 23 August 2016

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

scientific article published on 18 November 2016

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases

scientific article published in November 2007

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

scientific article

Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.

scientific article published on 20 June 2016

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

scientific article published on 4 January 2018

List of works by Kim M Keppler-Noreuil

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features ⬇️

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A ⬇️

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

Behavioral management of a long-term survivor with tetrasomy 18p.

Binder phenotype: associated findings and etiologic mechanisms

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

Characterization of thrombosis in patients with Proteus syndrome

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Clinical features and management issues in Mowat-Wilson syndrome

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Craniosynostosis: another feature of the 22q11.2 deletion syndrome

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies

Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter Syndrome ⬇️

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Guidelines for case classification for the National Birth Defects Prevention Study

In vitro fertilization is associated with an increase in major birth defects

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review

Risk factors for Dandy-Walker malformation: a population-based assessment

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).